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Aliases for LEMD3 Gene

Aliases for LEMD3 Gene

  • LEM Domain Containing 3 2 3 5
  • LEM Domain-Containing Protein 3 3 4
  • MAN1 3 4
  • Integral Inner Nuclear Membrane Protein 3
  • Inner Nuclear Membrane Protein Man1 3

External Ids for LEMD3 Gene

Previous GeneCards Identifiers for LEMD3 Gene

  • GC12P063850
  • GC12P065563
  • GC12P062615

Summaries for LEMD3 Gene

Entrez Gene Summary for LEMD3 Gene

  • This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

GeneCards Summary for LEMD3 Gene

LEMD3 (LEM Domain Containing 3) is a Protein Coding gene. Diseases associated with LEMD3 include Buschke-Ollendorff Syndrome and Melorheostosis With Osteopoikilosis. Among its related pathways are Mitotic Prophase and Mitotic Metaphase and Anaphase. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is LEMD2.

UniProtKB/Swiss-Prot for LEMD3 Gene

  • Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEMD3 Gene

Genomics for LEMD3 Gene

Regulatory Elements for LEMD3 Gene

Enhancers for LEMD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F064699 1.1 Ensembl ENCODE 46.8 -468.9 -468870 2.4 CTCF ZFP64 ZNF140 MAX ZNF266 ZNF101 ZNF316 ZNF354C ZNF547 ZNF433 LEMD3 TBK1 LOC100420899 LOC105369804 RASSF3 PABPC1P4 TMEM5 GNS ENSG00000280320 ENSG00000280181
GH12F065821 1.4 FANTOM5 Ensembl ENCODE 31.6 +656.8 656821 10.3 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF302 ZNF548 LEMD3 ENSG00000256915 LOC105369810 LOC105369808 OSBPL9P4 LOC100129940 ENSG00000250280 ENSG00000256083 RPSAP52 HMGA2
GH12F064756 0.2 ENCODE 31.4 -411.1 -411148 4.5 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF548 LEMD3 GNS TBK1 ENSG00000250280 PIR33058
GH12F066168 0.2 ENCODE 24.7 +1,000.0 999963 2.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LEMD3 LOC105369810 OSBPL9P4 LOC105369808 ENSG00000256915 LLPH-AS1 ENSG00000228144 LLPH
GH12F065429 1.4 Ensembl ENCODE 24.5 +261.6 261575 3.7 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF302 FOS LEMD3 LOC105369808 ENSG00000256915 LOC105369810 LOC100420899 TBK1 ENSG00000250280 KRT18P60 LOC105369809
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LEMD3 on UCSC Golden Path with GeneCards custom track

Promoters for LEMD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001025038 1130 4200 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for LEMD3 Gene

Chromosome:
12
Start:
65,169,571 bp from pter
End:
65,248,361 bp from pter
Size:
78,791 bases
Orientation:
Plus strand

Genomic View for LEMD3 Gene

Genes around LEMD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEMD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEMD3 Gene

Proteins for LEMD3 Gene

  • Protein details for LEMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2U8-MAN1_HUMAN
    Recommended name:
    Inner nuclear membrane protein Man1
    Protein Accession:
    Q9Y2U8
    Secondary Accessions:
    • Q9NT47
    • Q9NYA5

    Protein attributes for LEMD3 Gene

    Size:
    911 amino acids
    Molecular mass:
    99997 Da
    Quaternary structure:
    • Interacts with SMAD1, SMAD2, SMAD3 and SMAD5. Binds to both phosphorylated and unphosphorylated R-SMADS.

    Three dimensional structures from OCA and Proteopedia for LEMD3 Gene

neXtProt entry for LEMD3 Gene

Post-translational modifications for LEMD3 Gene

  • Ubiquitination at Lys 787
  • Modification sites at PhosphoSitePlus

Other Protein References for LEMD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LEMD3 Gene

Domains & Families for LEMD3 Gene

Gene Families for LEMD3 Gene

Suggested Antigen Peptide Sequences for LEMD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2U8

UniProtKB/Swiss-Prot:

MAN1_HUMAN :
  • Contains 1 LEM domain.
Domain:
  • Contains 1 LEM domain.
genes like me logo Genes that share domains with LEMD3: view

Function for LEMD3 Gene

Molecular function for LEMD3 Gene

UniProtKB/Swiss-Prot Function:
Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

Gene Ontology (GO) - Molecular Function for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15231748
GO:0031490 chromatin DNA binding IBA --
genes like me logo Genes that share ontologies with LEMD3: view

Phenotypes for LEMD3 Gene

genes like me logo Genes that share phenotypes with LEMD3: view

Human Phenotype Ontology for LEMD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LEMD3

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LEMD3 Gene

Localization for LEMD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEMD3 Gene

Nucleus inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LEMD3 Gene COMPARTMENTS Subcellular localization image for LEMD3 gene
Compartment Confidence
nucleus 5
plasma membrane 3
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA,IDA 15647271
GO:0005639 integral component of nuclear inner membrane IEA,TAS --
GO:0016020 membrane TAS 10671519
GO:0016021 integral component of membrane IDA 10671519
genes like me logo Genes that share ontologies with LEMD3: view

Pathways & Interactions for LEMD3 Gene

genes like me logo Genes that share pathways with LEMD3: view

Gene Ontology (GO) - Biological Process for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IBA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IDA 15647271
GO:0030514 negative regulation of BMP signaling pathway IDA 15647271
GO:0032926 negative regulation of activin receptor signaling pathway IDA 15647271
GO:0070197 meiotic attachment of telomere to nuclear envelope IBA --
genes like me logo Genes that share ontologies with LEMD3: view

No data available for SIGNOR curated interactions for LEMD3 Gene

Transcripts for LEMD3 Gene

Unigene Clusters for LEMD3 Gene

LEM domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LEMD3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LEMD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: -
SP2:

Relevant External Links for LEMD3 Gene

GeneLoc Exon Structure for
LEMD3
ECgene alternative splicing isoforms for
LEMD3

Expression for LEMD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LEMD3 Gene

Protein differential expression in normal tissues from HIPED for LEMD3 Gene

This gene is overexpressed in Testis (15.5), Peripheral blood mononuclear cells (11.0), and Pancreas (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LEMD3 Gene



Protein tissue co-expression partners for LEMD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LEMD3 Gene:

LEMD3

SOURCE GeneReport for Unigene cluster for LEMD3 Gene:

Hs.744150

mRNA Expression by UniProt/SwissProt for LEMD3 Gene:

Q9Y2U8-MAN1_HUMAN
Tissue specificity: Heart, brain, placenta, lung, liver and skeletal muscle.
genes like me logo Genes that share expression patterns with LEMD3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LEMD3 Gene

Orthologs for LEMD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LEMD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LEMD3 34 35
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia LEMD3 34 35
  • 92.85 (n)
dog
(Canis familiaris)
Mammalia LEMD3 34 35
  • 88.53 (n)
rat
(Rattus norvegicus)
Mammalia Lemd3 34
  • 86.5 (n)
mouse
(Mus musculus)
Mammalia Lemd3 34 16 35
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LEMD3 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LEMD3 34 35
  • 80.45 (n)
lizard
(Anolis carolinensis)
Reptilia LEMD3 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lemd3 34
  • 66.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia XMAN1 34
zebrafish
(Danio rerio)
Actinopterygii lemd3 34 35
  • 64.46 (n)
worm
(Caenorhabditis elegans)
Secernentea lem-2 35
  • 20 (a)
OneToOne
Species where no ortholog for LEMD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LEMD3 Gene

ENSEMBL:
Gene Tree for LEMD3 (if available)
TreeFam:
Gene Tree for LEMD3 (if available)

Paralogs for LEMD3 Gene

Paralogs for LEMD3 Gene

genes like me logo Genes that share paralogs with LEMD3: view

Variants for LEMD3 Gene

Sequence variations from dbSNP and Humsavar for LEMD3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs267607216 Pathogenic 65,245,931(+) CTCTT(A/G)GTTTG reference, stop-gained
rs267607217 Pathogenic 65,239,970(+) AATAT(C/T)GATGG reference, stop-gained
rs10128865 -- 65,214,092(+) ATGGA(G/T)TCTCG intron-variant
rs10161268 -- 65,197,667(+) TATCA(G/T)TTTTA intron-variant
rs10161270 -- 65,197,795(+) TATCA(A/G)ACCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LEMD3 Gene

Variant ID Type Subtype PubMed ID
nsv1144631 CNV deletion 24896259
nsv522671 CNV loss 19592680
nsv832445 CNV gain 17160897
nsv952197 CNV duplication 24416366

Variation tolerance for LEMD3 Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LEMD3 Gene

Human Gene Mutation Database (HGMD)
LEMD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEMD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEMD3 Gene

Disorders for LEMD3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LEMD3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
buschke-ollendorff syndrome
  • osteopoikilosis
melorheostosis with osteopoikilosis
  • melorheostosis, isolated
melorheostosis
elastoma
  • juvenile elastoma without osteopoikilosis
12q14 microdeletion syndrome
  • del(12)(q14)
- elite association - COSMIC cancer census association via MalaCards
Search LEMD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAN1_HUMAN
  • Buschke-Ollendorff syndrome (BOS) [MIM:166700]: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. {ECO:0000269 PubMed:15489854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Melorheostosis (MEL) [MIM:155950]: Rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LEMD3

Genetic Association Database (GAD)
LEMD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LEMD3
genes like me logo Genes that share disorders with LEMD3: view

No data available for Genatlas for LEMD3 Gene

Publications for LEMD3 Gene

  1. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. (PMID: 10671519) Lin F. … Worman H.J. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain. (PMID: 16648637) Caputo S. … Zinn-Justin S. (J. Biol. Chem. 2006) 3 4 22 64
  3. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. (PMID: 15601644) Lin F. … Worman H.J. (Hum. Mol. Genet. 2005) 3 4 22 64
  4. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. (PMID: 15647271) Pan D. … Luo K. (J. Biol. Chem. 2005) 3 4 22 64
  5. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (PMID: 15489854) Hellemans J. … Mortier G.R. (Nat. Genet. 2004) 2 3 4 64

Products for LEMD3 Gene

Sources for LEMD3 Gene

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